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Gene: MED12 |
Gene summary for MED12 |
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Gene information | Species | Human | Gene symbol | MED12 | Gene ID | 9968 |
Gene name | mediator complex subunit 12 | |
Gene Alias | ARC240 | |
Cytomap | Xq13.1 | |
Gene Type | protein-coding | GO ID | GO:0001501 | UniProtAcc | Q93074 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
9968 | MED12 | P76T-E | Human | Esophagus | ESCC | 1.97e-04 | 1.50e-01 | 0.1207 |
9968 | MED12 | P79T-E | Human | Esophagus | ESCC | 6.39e-14 | 2.71e-01 | 0.1154 |
9968 | MED12 | P80T-E | Human | Esophagus | ESCC | 3.61e-13 | 3.56e-01 | 0.155 |
9968 | MED12 | P82T-E | Human | Esophagus | ESCC | 6.28e-04 | 1.91e-01 | 0.1072 |
9968 | MED12 | P83T-E | Human | Esophagus | ESCC | 1.02e-18 | 4.16e-01 | 0.1738 |
9968 | MED12 | P84T-E | Human | Esophagus | ESCC | 8.33e-03 | 1.41e-01 | 0.0933 |
9968 | MED12 | P89T-E | Human | Esophagus | ESCC | 4.86e-05 | 2.39e-01 | 0.1752 |
9968 | MED12 | P91T-E | Human | Esophagus | ESCC | 5.34e-06 | 5.84e-01 | 0.1828 |
9968 | MED12 | P107T-E | Human | Esophagus | ESCC | 6.90e-07 | 1.41e-01 | 0.171 |
9968 | MED12 | P126T-E | Human | Esophagus | ESCC | 5.94e-06 | 3.32e-01 | 0.1125 |
9968 | MED12 | P127T-E | Human | Esophagus | ESCC | 3.90e-08 | 1.47e-01 | 0.0826 |
9968 | MED12 | P128T-E | Human | Esophagus | ESCC | 6.62e-11 | 2.56e-01 | 0.1241 |
9968 | MED12 | P130T-E | Human | Esophagus | ESCC | 1.87e-24 | 5.25e-01 | 0.1676 |
9968 | MED12 | HCC1_Meng | Human | Liver | HCC | 9.79e-18 | 2.96e-02 | 0.0246 |
9968 | MED12 | HCC2_Meng | Human | Liver | HCC | 2.55e-03 | 1.11e-02 | 0.0107 |
9968 | MED12 | HCC1 | Human | Liver | HCC | 8.72e-04 | 2.81e+00 | 0.5336 |
9968 | MED12 | HCC2 | Human | Liver | HCC | 4.72e-04 | 1.63e+00 | 0.5341 |
9968 | MED12 | S014 | Human | Liver | HCC | 3.31e-14 | 4.88e-01 | 0.2254 |
9968 | MED12 | S015 | Human | Liver | HCC | 1.77e-05 | 3.39e-01 | 0.2375 |
9968 | MED12 | S016 | Human | Liver | HCC | 6.86e-15 | 4.76e-01 | 0.2243 |
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∗log2FC in expression of this searched gene in stem-like cells from each diseased tissue sample relative to stem-like cells in normal samples in each tissue plotted against the malignancy continuum. Samples are colored based on if they are from different disease stage. |
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Malignant transformation related pathway analysis |
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Tissue | Disease Stage | Enriched GO biological Processes |
Colorectum | AD | ![]() |
Colorectum | SER | ![]() |
Colorectum | MSS | ![]() |
Colorectum | MSI-H | ![]() |
Colorectum | FAP | ![]() |
∗Top 15 enriched GO BP terms are showed in the bar plot of each disease state in each tissue. Each row represents a significant GO biological process which is colored according to the -log10(p.adjust). |
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GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:001605517 | Esophagus | ESCC | Wnt signaling pathway | 268/8552 | 444/18723 | 2.32e-10 | 6.58e-09 | 268 |
GO:019873817 | Esophagus | ESCC | cell-cell signaling by wnt | 269/8552 | 446/18723 | 2.41e-10 | 6.79e-09 | 269 |
GO:000184115 | Esophagus | ESCC | neural tube formation | 75/8552 | 102/18723 | 9.68e-09 | 1.95e-07 | 75 |
GO:000184314 | Esophagus | ESCC | neural tube closure | 66/8552 | 88/18723 | 1.98e-08 | 3.82e-07 | 66 |
GO:001402014 | Esophagus | ESCC | primary neural tube formation | 69/8552 | 94/18723 | 4.22e-08 | 7.76e-07 | 69 |
GO:006060614 | Esophagus | ESCC | tube closure | 66/8552 | 89/18723 | 4.24e-08 | 7.76e-07 | 66 |
GO:00219159 | Esophagus | ESCC | neural tube development | 101/8552 | 152/18723 | 1.78e-07 | 2.79e-06 | 101 |
GO:00163316 | Esophagus | ESCC | morphogenesis of embryonic epithelium | 98/8552 | 147/18723 | 2.12e-07 | 3.27e-06 | 98 |
GO:000183814 | Esophagus | ESCC | embryonic epithelial tube formation | 83/8552 | 121/18723 | 2.78e-07 | 4.08e-06 | 83 |
GO:009872714 | Esophagus | ESCC | maintenance of cell number | 90/8552 | 134/18723 | 3.94e-07 | 5.43e-06 | 90 |
GO:001982714 | Esophagus | ESCC | stem cell population maintenance | 88/8552 | 131/18723 | 5.23e-07 | 6.97e-06 | 88 |
GO:006007016 | Esophagus | ESCC | canonical Wnt signaling pathway | 180/8552 | 303/18723 | 9.15e-07 | 1.17e-05 | 180 |
GO:00063673 | Esophagus | ESCC | transcription initiation from RNA polymerase II promoter | 56/8552 | 77/18723 | 1.30e-06 | 1.59e-05 | 56 |
GO:003514815 | Esophagus | ESCC | tube formation | 96/8552 | 148/18723 | 1.86e-06 | 2.16e-05 | 96 |
GO:000635211 | Esophagus | ESCC | DNA-templated transcription, initiation | 86/8552 | 130/18723 | 1.88e-06 | 2.19e-05 | 86 |
GO:00721759 | Esophagus | ESCC | epithelial tube formation | 86/8552 | 132/18723 | 4.81e-06 | 5.10e-05 | 86 |
GO:006056210 | Esophagus | ESCC | epithelial tube morphogenesis | 187/8552 | 325/18723 | 9.95e-06 | 9.44e-05 | 187 |
GO:00074926 | Esophagus | ESCC | endoderm development | 54/8552 | 77/18723 | 1.20e-05 | 1.12e-04 | 54 |
GO:00017387 | Esophagus | ESCC | morphogenesis of a polarized epithelium | 63/8552 | 94/18723 | 2.34e-05 | 2.00e-04 | 63 |
GO:00420636 | Esophagus | ESCC | gliogenesis | 172/8552 | 301/18723 | 3.75e-05 | 3.04e-04 | 172 |
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Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa0491928 | Esophagus | ESCC | Thyroid hormone signaling pathway | 78/4205 | 121/8465 | 6.79e-04 | 2.23e-03 | 1.14e-03 | 78 |
hsa04919113 | Esophagus | ESCC | Thyroid hormone signaling pathway | 78/4205 | 121/8465 | 6.79e-04 | 2.23e-03 | 1.14e-03 | 78 |
hsa0491912 | Liver | HCC | Thyroid hormone signaling pathway | 75/4020 | 121/8465 | 8.76e-04 | 3.38e-03 | 1.88e-03 | 75 |
hsa0491913 | Liver | HCC | Thyroid hormone signaling pathway | 75/4020 | 121/8465 | 8.76e-04 | 3.38e-03 | 1.88e-03 | 75 |
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Cell-cell communication analysis |
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Ligand | Receptor | LRpair | Pathway | Tissue | Disease Stage |
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Single-cell gene regulatory network inference analysis |
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TF | Cell Type | Tissue | Disease Stage | Target Gene | RSS | Regulon Activity |
∗The dot plots of a searched regulon are shown for all cell subpopulations in each disease state of each tissue based on the regulon specific score inferred using pySCENIC and by calculating the average expression. |
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Somatic mutation of malignant transformation related genes |
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Hugo Symbol | Variant Class | Variant Classification | dbSNP RS | HGVSc | HGVSp | HGVSp Short | SWISSPROT | BIOTYPE | SIFT | PolyPhen | Tumor Sample Barcode | Tissue | Histology | Sex | Age | Stage | Therapy Types | Drugs | Outcome |
MED12 | SNV | Missense_Mutation | c.6476A>G | p.Gln2159Arg | p.Q2159R | Q93074 | protein_coding | deleterious_low_confidence(0.01) | possibly_damaging(0.775) | TCGA-A1-A0SG-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | SD | ||
MED12 | SNV | Missense_Mutation | c.2499N>G | p.Phe833Leu | p.F833L | Q93074 | protein_coding | tolerated(0.49) | benign(0.007) | TCGA-A2-A25A-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unspecific | Cytoxan | SD | |
MED12 | SNV | Missense_Mutation | c.522N>T | p.Lys174Asn | p.K174N | Q93074 | protein_coding | deleterious(0) | benign(0.037) | TCGA-A8-A07L-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | CR | ||
MED12 | SNV | Missense_Mutation | c.701N>T | p.Asp234Val | p.D234V | Q93074 | protein_coding | deleterious(0.03) | benign(0.103) | TCGA-A8-A083-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
MED12 | SNV | Missense_Mutation | c.4141A>T | p.Asn1381Tyr | p.N1381Y | Q93074 | protein_coding | tolerated(0.08) | possibly_damaging(0.476) | TCGA-AC-A23C-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | chemo | CR | |
MED12 | SNV | Missense_Mutation | c.4236N>C | p.Lys1412Asn | p.K1412N | Q93074 | protein_coding | tolerated(0.24) | benign(0.196) | TCGA-AR-A0TX-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | |
MED12 | SNV | Missense_Mutation | rs374390933 | c.5138N>A | p.Arg1713Gln | p.R1713Q | Q93074 | protein_coding | deleterious(0) | benign(0.012) | TCGA-AR-A24Q-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD |
MED12 | SNV | Missense_Mutation | c.6490N>G | p.Asn2164Asp | p.N2164D | Q93074 | protein_coding | tolerated_low_confidence(0.09) | benign(0.074) | TCGA-B6-A0I6-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | PD | |
MED12 | SNV | Missense_Mutation | c.5896N>G | p.Pro1966Ala | p.P1966A | Q93074 | protein_coding | deleterious_low_confidence(0.01) | benign(0.025) | TCGA-B6-A0RS-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | PD | |
MED12 | SNV | Missense_Mutation | c.3230T>A | p.Leu1077Gln | p.L1077Q | Q93074 | protein_coding | deleterious(0) | probably_damaging(0.984) | TCGA-C8-A12V-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
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Related drugs of malignant transformation related genes |
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(DGIdb 4.0) |
Entrez ID | Symbol | Category | Interaction Types | Drug Claim Name | Drug Name | PMIDs |
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